Newborn screening program aims to help transform treatments for genetic diseases detected at birth

Newborn screening program aims to help transform treatments for genetic diseases detected at birth

Press Release | January 17, 2012

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

Now a pediatric research project plans to strategically expand the data collection linked to newborn screening results, aiming to open up broad opportunities to develop new ways to screen for and treat childhood diseases.

Many existing therapies for rare childhood diseases are seriously limited, while screening tests and treatments remain to be discovered for many other congenital disorders not currently included in newborn screening. At The Children’s Hospital of Philadelphia, a research group is developing tools to store long-term clinical data on children with conditions picked up in the screening tests. The goal is to harness the power of numbers—using clinical data from many patients over years of their lives as a resource for researchers seeking new and better tests and treatments.

As biomedical knowledge and screening technology advance, more disorders have been added to those included in newborn screening, and the list will continue to grow.

“Currently, newborn screening programs are primarily limited to a short-term focus,” said project leader Peter S. White, M.D., director of the Center for Biomedical Informatics (CBMi) at The Children’s Hospital of Philadelphia. “The programs screen for disorders in which early intervention is possible. If we can broaden the data capture to follow up children over a longer term, we can tap the potential to develop new medical tests and interventions for diseases that are not currently detectable or treatable.”

Awarded this past October, the CBMi’s project, the Long-Term Follow-Up Data Collection Tool, is part of an ongoing five-year award from the Newborn Screening Translational Research Network (NBSTRN) to the American College of Medical Genetics. The NBSTRN, in turn, is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health.

The subcontract award to Children’s Hospital totals $1.8 million over three years.

A classic example of a disease detected in newborn screening is phenylketonuria (PKU), in which a mutated gene disables a patient’s ability to process the amino acid phenylananine. Untreated, the excess amino acid causes severe mental retardation. But major diet restrictions, beginning in the first few weeks of life, allow near-normal development. Newborn screening programs have sharply reduced PKU-related mental retardation over the past four decades.

Over the years, more than 50 additional diseases have been added to the newborn screening list, including sickle cell disease and cystic fibrosis. If the initial screening flags a suspected disorder, healthcare providers order further tests to confirm or rule out the first result.